Summaries for Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia...

OMIM
:58
Hypomyelinating leukodystrophy-7 is an autosomal recessive neurodegenerative disorder characterized by childhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression. Other features may include hypodontia or oligodontia and hypogonadotropic hypogonadism. There is considerable inter- and intrafamilial variability (summary by Bernard et al., 2011).
See also HLD8 (614381), which has similar features and is caused by mutation in the POLR3B gene (614366) on chromosome 12q23. The POLR3A and POLR3B genes encode the 2 largest subunits of RNA polymerase III.
For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see 312080. (607694)

MalaCards based summary
:
Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism, also known as leukodystrophy with oligodontia, is related to leukodystrophy and polr3-related leukodystrophy, and has symptoms including seizures, ataxia and tremor. An important gene associated with Leukodystrophy, Hypomyelinating, 7, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism is POLR3A (RNA Polymerase III Subunit A). Affiliated tissues include eye and brain, and related phenotypes are delayed puberty and nystagmus

Disease Ontology
:12
A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hildhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has material basis in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22.

UniProtKB/Swiss-Prot
:76
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism: An autosomal recessive neurodegenerative disorder characterized by childhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression. Other features may include hypodontia or oligodontia and hypogonadotropic hypogonadism. There is considerable inter- and intrafamilial variability.